ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.8238G>C (p.Val2746=)

gnomAD frequency: 0.00039  dbSNP: rs147418086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629524 SCV000750470 likely benign Primary ciliary dyskinesia 2023-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424201 SCV004161567 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing DNAH8: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965315 SCV004778036 likely benign DNAH8-related condition 2020-01-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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